Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918043
rs121918043
1 0.925 0.120 4 88046854 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1392093609
rs1392093609
1 1.000 0.120 4 88007759 missense variant C/T snv 0.010 < 0.001 1 2003 2003
dbSNP: rs754868200
rs754868200
2 0.925 0.200 4 88052022 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs778235410
rs778235410
1 0.925 0.120 4 88067946 stop gained C/G;T snv 2.4E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs886041114
rs886041114
2 1.000 0.120 4 88046642 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2011 2011